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Muscular Dystrophy

What is Muscular Dystrophy?

The muscular dystrophies (MD) are a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles which control movement.

Types of Muscular Dystrophy

There are many forms of muscular dystrophy. Some types are, some noticeable at birth (congenital muscular dystrophy). Other types are develop in adolescence (Becker MD). The three most common types of muscular dystrophy are: Duchenne, facioscapulohumeral, and myotonic. These three types differ in terms of pattern of inheritance, age of onset, rate of progression, and distribution of weakness.

Duchenne muscular dystrophy

Duchenne muscular dystrophy primarily affects boys and is the result of mutations in the gene that regulates dystrophin - a protein involved in maintaining the integrity of muscle fiber. Onset is between 3-5 years and progresses rapidly. Most boys become unable to walk at 12, and by 20 have to use a respirator to breathe.

Facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy appears in adolescence and causes progressive weakness in facial muscles and certain muscles in the arms and legs. It progresses slowly and can vary in symptoms from mild to disabling.

Myotonic muscular dystrophy

Myotonic muscular dystrophy varies in the age of onset and is characterized by prolonged muscle spasm in the fingers and facial muscles; a floppy-footed, high-stepping gait; cataracts; cardiac abnormalities; and endocrine disturbances. Individuals with myotonic muscular dystrophy have long faces and drooping eyelids. Men with myotonic muscular dystrophy have frontal baldness.

Treatment Options for Muscular dystrophy

There is no specific treatment for any of the forms of muscular dystrophy.

Respiratory therapy, physical therapy to prevent painful muscle contractures, orthopedic appliances used for support, and corrective orthopedic surgery may be needed to improve the quality of life in some cases. Cardiac abnormalities may require a pacemaker. Corticosteroids such as prednisone can slow the rate of muscle deterioration in patients with Duchenne muscular dystrophy but causes side effects. Myotonia is usually treated with medications such as mexiletine, phenytoin, or quinine.

What is the prognosis of Muscular dystrophy?

The prognosis of muscular dystrophy varies according to the type of muscular dystrophy and the progression of the disorder. Some cases may be mild and progress very slowly over a normal lifespan, while other cases may have more marked progression of muscle weakness, functional disability, and loss of the ability to walk. In Duchenne muscular dystrophy, death usually occurs in the early 20s.

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